Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Val92Met (p.V92M), ENSG00000198211 p.Val92Met (p.V92M)
(
ENST00000555147.2,
ENST00000555427.1,
ENST00000639847.1 )
MC1R p.Val92Leu (p.V92L), ENSG00000198211 p.Val92Leu (p.V92L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Val92Met (p.V92M), ENSG00000198211 p.Val92Met (p.V92M) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Val92Leu (p.V92L), ENSG00000198211 p.Val92Leu (p.V92L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- Experimental Organism Basal Cell Carcinoma
- Source Database
- DisGeNET
- Description
- The melanocyte stimulating hormone receptor polymorphism: association of the V92M and A294H alleles with basal cell carcinoma.
- Pubmed
- 10340440
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00461451182536516
- Year of publication
- 1999
Drugs